Saturday, September 3, 2016

In Which I Go On (and On) About Genetic Testing

About 6 weeks ago, I finally took the plunge and purchased DNAFit testing to learn more about my genetic predispositions re: fitness and nutrition. It's expensive so I dithered for a while (cost me @$450 CDN and that was right after Brexit). It also took a long time to get the results, longer than it should have, because my kit got lost in the mail and there were potential postal strike issues here (just resolved). Theoretically, one could get results within 3 weeks - from start to finish, maybe even faster if you're in the UK. You order, wait for the kit, take a scrape swab (2 minutes worth of effort), post it back, wait for it to get back to UK and then wait @10 days for the reports). My online results finally arrived 2 days ago. It'll take another week for my fancy dossier to arrive (but I suspect that info will mimic what I can now see online).

For starters, I totally recommend it. The industrial design of the kit alone makes it worthwhile! (OK, joking, but just sort of.) The information I've received is substantive, but I will say that you should plan to invest in the additional (@$175 CDN) post-report consultation* unless, like me, you enjoy doing research. The way results are positioned in the reports is very neutral, for many good reasons. But I want to know what my specific polymorphic variations mean for me, especially when considering how propensity, indicated by one allele combo (from one gene), influences another. So much of predisposition is about how the moving pieces intersect.

I don't need to tell you that I'm no scientist. (Sorry, Scientists, if I'm butchering the concepts!) But I've done as much extra research as one can (in 2 days, with a new job) and I'm amazed by what I've learned independently, now that I have the raw data to work from. Furthermore, my naturopath is also reviewing this info in conjunction with my latest blood tests, hormonal panels and spinal radiology report. Between this and my new yoga rope wall, I've got some tricks up my sleeve!

I'm well aware that this post is the very definition of first-world solipsism but, as I like to say, it's my blog so I'm going there. Furthermore, as the DNAFit people like to say, like on every freakin' page, your genes won't change but your lifestyle can. Genetic propensity is merely an indicator.

The Good Things I Learned

It's always nice to lead on a strong foot so here are some rather meaningful "pros" I discovered:
  • I don't have the gene variation associated with celiac disease. What I mean is that I can happily digest gluten.
  • I do have the gene variation associated with being able to digest lactose. Which I could have told you. Cuz I love me the dairy and it doesn't give me any issues.
  • Middle-agedness aside, I have low "fat sensitivity", which means I'm not genetically predisposed to obesity or to the metabolic syndrome that often accompanies it, particularly if I keep the carbs complex and the saturated fat in check.
  • I strongly skew, fitness-wise, towards endurance (volume) - not power (intensity). Maybe that's why I can walk around for 12 hours a day, covering miles and miles, while I'm on vacation.
  • My profile predicts a tendency towards intermediate VO2 max (aerobic) capacity. Alas, I'm never going to make any use of this one - running ain't happening! - but it's nice to know.
  • I have a genetic predisposition to recover from exercise rather quickly with minimal inflammation. In fact, there's nothing in my profile that shows an increased likelihood of inflammation related to immune response.
 More Complicated Things I Learned
  • I have sodium sensitivity which could lead to hypertension (though I believe, from my own research, that I have other gene variations that protect me from this). Nonetheless, as per the advice from every medical association in the land, I should limit my salt intake to 5.5g a day (whatever this means). This is a real issue because a) I love salt and b) I especially love it when I'm stressed and c) I seem to be stressed much of the time. I don't have a solution for this one yet.
  • I also have alcohol and caffeine sensitivity: I metabolize the booze fast (which can lead to hangovers) and the caffeine slowly (which can be detrimental to bone health - what you'll see, below, is likely my biggest issue). Happily, I very rarely imbibe enough to bring about nausea or nasty post-drinking effects (um, that's just unpleasant) and I only have one double-espresso in the morning. I've known for years that drinking more than one will leave me with shakes for an hour. So my body's got me covered on these accounts. Note: These are examples of how my lifestyle is a protective factor against my genetic predisposition.
  • Apparently, I also have the gene variation which detrimentally affects bone structure and calcium absorption, which is why the caffeine thing is that much more relevant than it would be otherwise. This bone thing comes up in my report, again and again, vis a vis various gene variations and I have to say I'm really surprised by this. Mind you, it predicts arthritis. Apparently, for me, high intake of vitamin D is key (because that's how my calcium absorption will be improved).
  • Alas, and this ain't great either, I show a moderately reduced capacity to neutralize free radicals because I have a deleted version of one of the genes that's instrumental in this process. Given my immediate family history of breast cancer, that's not encouraging. What is encouraging - and this goes back to lifestyle protective factors - is that I can pretty much make up for this by eating extra-high volumes of cruciferous vegetables, like daily. Alas, I HATE a good 90% of cruciferous vegetables because the texture torments me. But, seems my cold-pressed, green juice (with no fruit) habit might be just the thing for this. Furthermore, I'm going to buck up and start eating the tree-like vegetables I loathe. In soup. FYI - I didn't know that arugula is a cruciferous veg. Happily, I eat this in salad all the time because it's one of the few green vegetables that doesn't have the texture of trees!
  • Somewhat to my dismay, but hardly a deal-breaker, I'm one of those peeps who shouldn't eat much grilled or smoked meat because I have a version of the gene that rapidly activates the toxic substances present in meat grilled at high temps. You know, I have until now, eaten bacon multiple times a week. And I'm no stranger to a good steak or chop on the BBQ. That's how my husband cooks. But I've been using lifestyle, yet again, to counteract this for the past few months - just by accident. For whatever reason, I've been off the meat and into the seafood. Or eating the meat raw!
  • I can't say this one is a surprise (given my Latina origins), but I have moderately high carbohydrate sensitivity. This test tells me that I should limit refined carbs to 8% of my daily calories and to get the rest of the carbs I eat from complex, healthful sources. I don't know where the fuck this leaves my standards (potato chips or fries or rice) but I sense it's in the grocery store.** Of course, carb sensitivity isn't a bad thing - half of the ladies in the world live their lives as if they have it - but I feel like such a statistic.
  • Finally, and this is closely entwined with my bone health situation, I have a high propensity towards soft-tissue injury. Between these two things, my pain condition isn't exactly beyond the realm of prediction.
What none of this testing takes into account, as far as I can tell, is my nervous system - the humming-birdlike pace at which my brain and arrhythmic heart are naturally inclined to function. I'm ready to bet that I metabolize absurd amounts vitamin D and omega 3s for this reason alone (though this is totally conjecture). If so, that might predispose me to require even higher daily amounts of these nutrients, than have been recommended by the test, for other genetic-support reasons.

I would LOVE to be able to take a genetic test that predicts things like predisposition to anxiety, phobia and OC response. I'm sure I'd be off the charts but, you know, maybe I'm wrong?! I didn't exactly predict bone health issues and there they are. If anyone knows of a good test that does this, please let me know in the comments. I've become so robot in my 40s :-)

So, did you make it this far?? If yes, I'd love to know if you have done any genetic testing for diet, fitness or other info? What was the most interesting or life-changing thing you learned from the experience. Let's talk!

*FWIW, I have no idea if that consultation is worth it because I haven't undertaken it. I'm just saying that the positioning of information in the reports was too facile for my liking. Then again, I'm one of those in the weeds people. For someone else, the report might check off the boxes.

** The Low Carb diet,  according to DNAFit, is:

20% Protein
40% Carbohydrate (15% starchy, 25% fibrous)
40% Fat.

Gotta say, that's entirely feasible - and hardly low carb (though it is light on refined carbs). It's more or less what I do now, except the ratio of my startchy and/or refined carbs to fibrous carbs is skewed in the wrong direction.


  1. I'm so fascinated!!! I think you SHOULD do the consultation, because you are obviously invested and fascinated by all this, so why back out of the last phase? I hope you write more about what your doc and naturopath have to say about their interpretations.

  2. It's totally fascinating! I want to test for EVERYTHING (mwhahaha). Of course, I realize that testing for everything is on the one hand dangerous, and on the other hand, likely impossible. But I do think that this degree of information is SO helpful in the real world. I will keep you posted. I already know how I'm going to tackle things diet-wise (except for the salt thing) based on this testing (though my hormone panel may shed more light on how I should proceed to lose and then maintain weight during this time frame). I will probably start doing some sort of moderate weight-training. But, by and large, the way I exercise is appropriate for me.

  3. What do they mean by soft tissue? Perhaps the soft tissue damage propensity could be offset by weight training? I doubt there's adequate research to confirm or refute my hypothesis. I'd love to see studies that start with people whose genetic predispositions are the same, apply specific exercise regimes to counter predispositions, and gauge results a year later. In the meantime, I volunteer you as a data point of one. :) My own sporadic exercise centers on muscle building floorwork and free weights. I add stretching when I feel the need to meditate. Straight up meditation makes me fall asleep, lol.

    Bummer about the alcohol and caffeine sensitivity, K! However, I don't understand why quickly metabolizing alcohol would lead to hangovers. Wouldn't that mean you don't get hangovers? For example, if you could metabolize a glass of wine in 30 seconds, it'd be out of your bloodstream a minute later, right? I'm petite and female and slowly building up my alcohol tolerance so I can go wine tasting with friends. I'm learning what I can so I won't be the killjoy who stops drinking an hour after starting.

    1. OK - I want to know more about what they mean re: soft tissue. It's one of the things I'm going to email them about. And I agree with you about the booze - the report says: Moderation is particularly advised because the alcohol is
      rapidly metabolised to the toxic intermediate acetaldehyde which is also associated with hangover

      I don't think my issue has to do with my overall ability to metabolize it.

      FWIW, I drink a reasonable amount (a couple of glasses of wine a day is not abnormal) and I've never had an issue with a hangover. I can tell when I've had enough. It's like the booze stops tasting good. And then I stop drinking it. Plus, I always eat when drinking and I make sure not to get dehydrated. So I think this might be a relative thing.

  4. fascinating...!
    you could get a bone density scan if you wanted to. I had one and I do have some bone loss, but I don't have osteoporosis (yet).
    PS I'm a lot older than you.

    1. That's an interesting idea. Maybe in light of this info, I will get that test. But I'm still just mulling over the options and what this means.

  5. Okay this is just mindblowing. I didn't know it existed, and when I checked the link it led to a site in Hebrew, and apparently I know some of the people involved in Israel ( I was a triathlete so I know many dietitians etc).

    I couldn't find what it actually shows - the nuclear code? (ie ATCG)? For the alleles? What about epigenetics?

    Regarding your question about stress and anxiety - as far as I know, just as in many fields in genetics, there are some variations associated with some syndromes (like post partum depression) but with no current clinical applications.

    I don't remember - have you read about psycho-neuro-immunology? It's a growing field studying the relationship between psychological variables and immune response from a neurological point of view. You may be also interested in "allostatic load".

    1. Roni: Thank you so much for those topics to consider! I haven't heard about these things so I will be sure to look them up. It does show the nuclear code and the alleles that apply to you. It doesn't go into epigenetics in the report. But there's a really good blog that talks about the polymorphisms and what they imply. I'm amazed that, with certain variations, you can be healthier having the "bad alleles", but living a "good" lifestyle than the other way round.

      Sawy your email about the needles/pattern. Keep going! Seriously, there are few things as neuroplastic as a brain on knitting!

  6. Some things to consider from a scientific perspective (caveat: I am a chemist, not a geneticist or MD): DNA testing is not regulated well in the EU (the USA has CLIA) and one can only hope the DNAfit lab is following best practices. They do not make any statements on their website and their scientists' credentials do not impress me. This means the results you get may not even be what they say they are. Do they include error margins in the results they sent you? Discuss the accuracy? This is not even taking into account that diseases/propensities of genes are linked to probabilities not definite facts.

    As for using/interpreting the results: Science is hard, really hard. If there were a clean connection, it would be used as a diagnostic tool (e.g. some breast cancers). But even that is tied to privacy of genetic data. Example: I worked in bone research and learned from others how hard it is to study a disease because many affected people refused to be DNA tested, so it will take a lot of effort to get significant data. Even osteoporosis and arthritis (hugely common) are not well understood on a personal genetic level - most is studied in sheep and male mice, not exactly close to the main affected group - menopausal women. This is not even taking into account race differences and epigenetics. There is much more to it than DNA and genes. The equipment to read the genome is comparatively cheap and that lends itself to quackery.

    I agree, the possibilities of testing are exciting, but this is like buying a dictionary and a printer and expecting to get a great novel out of it. Or better: you can read anything into it and it is closer to a horoscope than science.


    1. Mona - this is an excellent comment and I totally hear you. Science is hard. My ability to interpret it is minimal (and DNAFit is not doing the best job of this - I can tell and I'm not a scientist). But it's raw data (which I am willing to believe is achieved via best practice methods, though I may well be wrong) and I can use that data in many ways going forward. UofT also provides genetic testing services and I'm half-considering doing that testing just to compare results. But that costs @1000 bucks - so I have to wait till I have a bit more disposable income lying around. Thank you for saying this!

  7. I was all set to get the 23andMe (google's) test...when the FDA cracked down on it and so they're not allowed to extrapolate any health data from it. However, Stanford U. has a program where you can upload your raw data free and get all that info separately. Yay freedom?

    Anyhoo. They did do some genetic tests when I had the PRP procedure on my knee. Mainly to suss out blood clot risk, of which I thought I had little. Wrong. I'm at triple risk for that, ie, I carry one gene (my dad carries both and is at 13x, evidenced by bilateral blood clots in his lungs that came out of nowhere). The Doc said, 'You're that person they're talking about when they tell you to do those ankle circles on planes.' So they put me on omegas to mitigate that factor. Also interesting to know that it's linked to higher stroke and heart attack risk, which is indeed how 90% of my fam goes.

    Another gene testing for this is also linked to Alzheimers, so I had a moderate risk for this, which I is better than high, but not as good as average. Also good to know. I want to see that one coming. Over the last 3 generations, it has hit one member each time, so about a 20% rate. They recommended pregnenolone & DHEA, neither of which I tolerated well. Side effects like facial hair are just not something I'm prepared to put up with for uncertain benefits.

    Vit D testing is common here. But I was shocked to learn how genetically predisposed I am to deficits. I mean, growing up in desert country & drinking a lot of milk, I thought I was fine. Nope. I started taking 4,000 IU/day. Barely bumped it into normal range. Then 8,000 IU; Dr said still not good enough. So now I'm on 10,000 IU and have finally achieved optimal levels. Takeaway: Celtic genes trump growing up in constant sunshine.

    1. I heard about that crack down. Weirdly, 23 and me is pairing with DNAFit (I didn't know this till last week) to provide the kind of feedback that the US companies aren't allowed to release any longer.

      And seriously - isn't is SO good that you learned that info about your clotting propensity? I worked with a woman who had a similar thing and was advised not to get pregnant. She did get pregnant and then they had no idea of how to deliver the baby - a C section would be a problem from a clotting perspective and a labour might move clots from her legs to her lungs. It was very dramatic but all worked out in the end. She did not have another child.

      Fascinating that you went for the Alzheimer testing. I have to say that I would not do that, even though there is no specific risk in my family, because I don't know that I would want to deal with the results (if they weren't good). But I applaud you for going there and for taking the information to better yourself in the long run.